#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LRWD1	222229	broad.mit.edu	37	7	102110079	102110079	+	Silent	SNP	C	C	T	rs142392925	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:102110079C>T	ENST00000292616.5	+	10	1439	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	429					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						ACCAGGACTACGAATTCCAGG	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		17702	0.0		0.002	False		,,,				2504	0.0					uc003uzn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(1285-1287)taC>taT		Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	125.0	111.0	116.0		1287	-4.7	0.0	7	dbSNP_134	116	14,8586	11.2+/-40.8	0,14,4286	no	coding-synonymous	LRWD1	NM_152892.1		0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153		429/648	102110079	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	222229				DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102110079C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1287C>T	7.37:g.102110079C>T						MIR4467_uc022ajg.1_5'Flank	p.Y429Y	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN			9	1425	+			429					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	ENST00000292616.5	37	c.1287C>T	CCDS34715.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.553	0.470270	0.12461	2.27E-4	0.001628	ENSG00000161036	ENST00000488689;ENST00000468175	.	.	.	4.61	-4.65	0.03339	.	.	.	.	.	T	0.49029	0.1533	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.44620	-0.9316	4	.	.	.	-8.9171	6.8738	0.24135	0.1087:0.4283:0.0:0.463	.	.	.	.	M	58;15	.	.	T	+	2	0	LRWD1	101897084	0.010000	0.17322	0.008000	0.14137	0.928000	0.56348	-1.134000	0.03228	-1.466000	0.01897	-0.424000	0.05967	ACG		0.632	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		7	144	0	0	0	1	0	7	144				
KREMEN2	79412	broad.mit.edu	37	16	3016732	3016732	+	Silent	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr16:3016732C>T	ENST00000303746.5	+	5	1153	c.576C>T	c.(574-576)gaC>gaT	p.D192D	PAQR4_ENST00000293978.8_5'Flank|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000576565.1_5'Flank|KREMEN2_ENST00000575769.1_Silent_p.D192D|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000572045.1_Silent_p.D192D|KREMEN2_ENST00000319500.6_Silent_p.D192D|PAQR4_ENST00000572687.1_5'Flank|PAQR4_ENST00000318782.8_5'Flank|KREMEN2_ENST00000575885.1_Intron			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	192	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558, ECO:0000305}.			Missing (in Ref. 2; BAC11365). {ECO:0000305}.	Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCGACTGTGACCAGATCTGTT	0.706																																						uc002csg.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						c.(574-576)gaC>gaT		Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA.							19.0	25.0	23.0					16																	3016732		2191	4294	6485	SO:0001819	synonymous_variant	79412				Wnt receptor signaling pathway	integral to membrane		g.chr16:3016732C>T	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.576C>T	16.37:g.3016732C>T						KREMEN2_uc010bsw.2_Silent_p.D192D|KREMEN2_uc002csi.3_Silent_p.D192D|KREMEN2_uc010uwl.2_Intron|KREMEN2_uc002csh.3_Silent_p.D192D|KREMEN2_uc010bsx.3_Intron|PAQR4_uc002csj.4_5'Flank|PAQR4_uc002csk.4_5'Flank|PAQR4_uc002csl.4_5'Flank	p.D192D	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN			4	881	+			192	Missing (in Ref. 2; BAC11365).		WSC.		B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Silent	SNP	ENST00000303746.5	37	c.576C>T	CCDS10483.1																																																																																				0.706	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		5	60	0	0	0	1	0	5	60				
PCDHB16	57717	broad.mit.edu	37	5	140568475	140568475	+	IGR	SNP	C	C	G	rs17844529	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr5:140568475C>G	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTTTCGACTTCCGCGTGG	0.672													G|||	11	0.00219649	0.0045	0.0014	5008	,	,		17200	0.0		0.001	False		,,,				2504	0.0031					uc003liw.1																			0											c.(1579-1581)gaC>gaG		Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.		G	GLU/ASP	18,4388	822.1+/-416.4	1,16,2186	73.0	85.0	80.0		1583	2.2	0.2	5	dbSNP_123	80	5,8595	818.1+/-406.9	0,5,4295	no	missense	PCDHB9	NM_019119.3	45	1,21,6481	GG,GC,CC		0.0581,0.4085,0.1768	benign	528/798	140568475	23,12983	2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568475C>G	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568475C>G							p.D527E	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1581	+			528			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1581C>G	CCDS4251.1																																																																																				0.672	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		11	292	0	0	0	1	0	11	292				
PCK2	5106	broad.mit.edu	37	14	24568395	24568395	+	Missense_Mutation	SNP	A	A	G	rs146890792	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr14:24568395A>G	ENST00000216780.4	+	5	1070	c.802A>G	c.(802-804)Atc>Gtc	p.I268V	PCK2_ENST00000559250.1_Missense_Mutation_p.I280V|PCK2_ENST00000545054.2_Missense_Mutation_p.I134V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.I134V|PCK2_ENST00000558096.1_Missense_Mutation_p.I134V|PCK2_ENST00000396973.4_Missense_Mutation_p.I268V	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	268					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGCCCTACGCATCGCCTCTCG	0.662																																						uc001wlt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(802-804)Atc>Gtc		Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		A	VAL/ILE,VAL/ILE	0,4406		0,0,2203	49.0	44.0	46.0		802,802	5.8	1.0	14	dbSNP_134	46	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense	PCK2	NM_001018073.1,NM_004563.2	29,29	0,7,6496	GG,GA,AA		0.0814,0.0,0.0538	probably-damaging,probably-damaging	268/442,268/641	24568395	7,12999	2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24568395A>G	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.802A>G	14.37:g.24568395A>G	ENSP00000216780:p.Ile268Val					NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.I268V|PCK2_uc010tnw.2_Missense_Mutation_p.I134V|PCK2_uc010ald.2_Missense_Mutation_p.I120V|PCK2_uc010ale.2_Intron|PCK2_uc010tnx.2_Missense_Mutation_p.I134V|PCK2_uc001wlu.4_Missense_Mutation_p.I134V	p.I268V	NM_004563	NP_004554	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	4	934	+			268					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.802A>G	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124183	0.77436	0.0	8.14E-4	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.05649	3.41;3.41;3.41	5.79	5.79	0.91817	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.93808	3.46	0.80722	D	1	P;P;P;P	0.51449	0.591;0.897;0.945;0.897	P;P;P;P	0.57911	0.664;0.829;0.649;0.829	T	0.30238	-0.9985	10	0.87932	D	0	-9.3117	14.0845	0.64947	1.0:0.0:0.0:0.0	.	134;268;268;268	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	V	268;268;134	ENSP00000216780:I268V;ENSP00000380171:I268V;ENSP00000441826:I134V	ENSP00000216780:I268V	I	+	1	0	PCK2	23638235	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	2.219000	0.72066	0.460000	0.39030	ATC		0.662	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		5	91	0	0	0	1	0	5	91				
TCTE1	202500	broad.mit.edu	37	6	44250215	44250215	+	Missense_Mutation	SNP	C	C	T	rs146833594	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr6:44250215C>T	ENST00000371505.4	-	4	1050	c.928G>A	c.(928-930)Gag>Aag	p.E310K	TCTE1_ENST00000371504.1_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	310										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTCCTCGAGGACTGGG	0.572													C|||	7	0.00139776	0.0	0.0014	5008	,	,		21393	0.0		0.001	False		,,,				2504	0.0051					uc003oxi.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(928-930)Gag>Aag		Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.		C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	107.0	96.0	100.0		928	2.5	0.9	6	dbSNP_134	100	33,8567	22.8+/-68.1	0,33,4267	yes	missense	TCTE1	NM_182539.3	56	0,36,6467	TT,TC,CC		0.3837,0.0681,0.2768	benign	310/502	44250215	36,12970	2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250215C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.928G>A	6.37:g.44250215C>T	ENSP00000360560:p.Glu310Lys					TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	p.E310K	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	1084	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		310					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.928G>A	CCDS4910.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	1.570	-0.534484	0.04082	6.81E-4	0.003837	ENSG00000146221	ENST00000371505	T	0.52057	0.68	5.37	2.46	0.29980	.	0.569355	0.20252	N	0.096041	T	0.06050	0.0157	N	0.12663	0.25	0.09310	N	1	P	0.39520	0.676	B	0.32289	0.143	T	0.24584	-1.0156	10	0.06236	T	0.91	-28.2293	3.8673	0.09021	0.1246:0.5587:0.1215:0.1952	.	310	Q5JU00	TCTE1_HUMAN	K	310	ENSP00000360560:E310K	ENSP00000360560:E310K	E	-	1	0	TCTE1	44358193	0.016000	0.18221	0.859000	0.33776	0.397000	0.30659	0.446000	0.21694	1.424000	0.47217	0.455000	0.32223	GAG		0.572	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		7	168	0	0	0	1	0	7	168				
FGD5	152273	broad.mit.edu	37	3	14861538	14861538	+	Silent	SNP	C	C	T	rs200107291	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:14861538C>T	ENST00000285046.5	+	1	1070	c.960C>T	c.(958-960)tcC>tcT	p.S320S	FGD5_ENST00000543601.1_Silent_p.S79S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	320	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.S79S(1)|p.S320S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGATGAGTCCGCCGAGGAGA	0.552													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18129	0.0		0.0	False		,,,				2504	0.0					uc003bzc.3																			2	Substitution - coding silent(2)	p.S79S(1)|p.S320S(1)	endometrium(2)	NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(958-960)tcC>tcT		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.		C		2,4032		0,2,2015	64.0	71.0	68.0		960	-4.7	0.0	3		68	7,8363		0,7,4178	no	coding-synonymous	FGD5	NM_152536.3		0,9,6193	TT,TC,CC		0.0836,0.0496,0.0726		320/1463	14861538	9,12395	2017	4185	6202	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr3:14861538C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.960C>T	3.37:g.14861538C>T						FGD5_uc011avk.2_Silent_p.S320S	p.S320S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1070	+			320			Glu-rich.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.960C>T	CCDS46767.1																																																																																				0.552	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		15	166	0	0	0	1	0	15	166				
PNMA5	114824	broad.mit.edu	37	X	152159280	152159280	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562																																						uc010ntx.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(862-864)cGt>cAt		Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.							43.0	44.0	43.0					X																	152159280		2203	4298	6501	SO:0001583	missense	114824				apoptosis			g.chrX:152159280C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.863G>A	X.37:g.152159280C>T	ENSP00000388850:p.Arg288His					PNMA5_uc010ntw.3_Missense_Mutation_p.R288H|PNMA5_uc004fgy.4_Missense_Mutation_p.R288H|PNMA5_uc022chm.1_Missense_Mutation_p.R288H|PNMA5_uc022chn.1_Missense_Mutation_p.R288H	p.R288H	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN			1	1288	-	Acute lymphoblastic leukemia(192;6.56e-05)		288					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.863G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034229	0.54896	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.97	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.45343	0.477	T	0.18840	-1.0324	9	0.72032	D	0.01	-25.6602	5.2804	0.15673	0.0:0.8331:0.0:0.1669	.	288	Q96PV4	PNMA5_HUMAN	H	288	ENSP00000354834:R288H;ENSP00000445775:R288H;ENSP00000388850:R288H;ENSP00000392342:R288H	ENSP00000354834:R288H	R	-	2	0	PNMA5	151909936	0.906000	0.30813	0.023000	0.16930	0.160000	0.22226	0.939000	0.28978	0.669000	0.31146	0.287000	0.19450	CGT		0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		44	50	0	0	0	1	0	44	50				
PDS5A	23244	broad.mit.edu	37	4	39918684	39918684	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr4:39918684A>G	ENST00000303538.8	-	8	1399	c.860T>C	c.(859-861)cTt>cCt	p.L287P	PDS5A_ENST00000503396.1_Missense_Mutation_p.L287P	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTTGAATTCAAGCTGTGGCAT	0.313																																						uc003guv.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(859-861)cTt>cCt		Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.							52.0	45.0	47.0					4																	39918684		1818	4076	5894	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39918684A>G	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.860T>C	4.37:g.39918684A>G	ENSP00000303427:p.Leu287Pro					PDS5A_uc003guw.4_Missense_Mutation_p.L287P	p.L287P	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			7	1400	-			287						Missense_Mutation	SNP	ENST00000303538.8	37	c.860T>C	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251541	0.80135	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.77489	-1.01;-1.1	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89003	0.3423	9	.	.	.	-12.2549	15.8027	0.78468	1.0:0.0:0.0:0.0	.	287;287	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	P	287	ENSP00000303427:L287P;ENSP00000426749:L287P	.	L	-	2	0	PDS5A	39595079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.127000	0.65507	0.477000	0.44152	CTT		0.313	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	24	0	0	0	1	0	3	24				
MYBPHL	343263	broad.mit.edu	37	1	109839501	109839501	+	Missense_Mutation	SNP	C	C	T	rs140827712		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:109839501C>T	ENST00000357155.1	-	5	683	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	212	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TAGGAGTTGCCGATGATGAGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		21301	0.0		0.0	False		,,,				2504	0.001					uc001dxk.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(634-636)Ggc>Agc		Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.		C	SER/GLY	0,4406		0,0,2203	131.0	103.0	113.0		634	4.0	0.9	1	dbSNP_134	113	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MYBPHL	NM_001010985.2	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	212/355	109839501	3,13003	2203	4300	6503	SO:0001583	missense	343263							g.chr1:109839501C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.634G>A	1.37:g.109839501C>T	ENSP00000349678:p.Gly212Ser					MYBPHL_uc010ovh.1_Missense_Mutation_p.G189S|MYBPHL_uc001dxl.3_Intron	p.G212S	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	4	684	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	212			Fibronectin type-III.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.634G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554354	0.86231	0.0	3.49E-4	ENSG00000221986	ENST00000357155	T	0.61742	0.08	4.91	4.0	0.46444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74329	0.3702	M	0.91717	3.235	0.49687	D	0.999819	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80489	-0.1360	9	0.62326	D	0.03	.	12.4958	0.55927	0.168:0.832:0.0:0.0	.	189;212	B7ZME5;A2RUH7	.;MBPHL_HUMAN	S	212	ENSP00000349678:G212S	ENSP00000349678:G212S	G	-	1	0	MYBPHL	109641024	1.000000	0.71417	0.876000	0.34364	0.805000	0.45488	5.550000	0.67268	1.299000	0.44798	0.561000	0.74099	GGC		0.567	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		6	134	0	0	0	1	0	6	134				
MMP11	4320	broad.mit.edu	37	22	24123183	24123183	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:24123183G>A	ENST00000215743.3	+	5	806	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	252					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	TGACTGCAGGGGCGTTCAACA	0.622																																						uc002zxx.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(754-756)Ggc>Agc		Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.							91.0	76.0	81.0					22																	24123183		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24123183G>A		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.754G>A	22.37:g.24123183G>A	ENSP00000215743:p.Gly252Ser					MMP11_uc002zxy.3_Non-coding_Transcript	p.G252S	NM_005940	NP_005931	P24347	MMP11_HUMAN			4	776	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	252					Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.754G>A	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887655	0.91814	.	.	ENSG00000099953	ENST00000215743	T	0.31510	1.49	5.18	4.16	0.48862	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74003	-0.3804	10	0.87932	D	0	.	13.5053	0.61481	0.0751:0.0:0.9249:0.0	.	252	P24347	MMP11_HUMAN	S	252	ENSP00000215743:G252S	ENSP00000215743:G252S	G	+	1	0	MMP11	22453183	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.605000	0.98321	1.574000	0.49760	0.650000	0.86243	GGC		0.622	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		5	98	0	0	0	1	0	5	98				
P2RY2	5029	broad.mit.edu	37	11	72945651	72945651	+	Silent	SNP	C	C	T	rs147817701	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr11:72945651C>T	ENST00000311131.2	+	3	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_ENST00000393597.2_Silent_p.Y149Y|P2RY2_ENST00000393596.2_Silent_p.Y149Y	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	149					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGGCCCGCTACGCTCGCCGGG	0.697													C|||	29	0.00579073	0.0008	0.0	5008	,	,		14981	0.0		0.002	False		,,,				2504	0.0266					uc001otk.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(445-447)taC>taT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	Suramin(DB04786)	C	,,	3,4397	6.2+/-15.9	0,3,2197	37.0	38.0	38.0		447,447,447	-9.3	0.8	11	dbSNP_134	38	12,8572	9.1+/-34.3	0,12,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	P2RY2	NM_002564.2,NM_176071.1,NM_176072.1	,,	0,15,6477	TT,TC,CC		0.1398,0.0682,0.1155	,,	149/378,149/378,149/378	72945651	15,12969	2200	4292	6492	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945651C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.447C>T	11.37:g.72945651C>T						P2RY2_uc001otj.3_Silent_p.Y149Y|P2RY2_uc001otl.3_Silent_p.Y149Y|P2RY2_uc021qna.1_Silent_p.Y149Y	p.Y149Y	NM_176072	NP_788086	P41231	P2RY2_HUMAN			2	914	+			149					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.447C>T	CCDS8219.1																																																																																				0.697	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		9	168	0	0	0	1	0	9	168				
EVPL	2125	broad.mit.edu	37	17	74005040	74005040	+	Missense_Mutation	SNP	C	C	T	rs140832012		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr17:74005040C>T	ENST00000301607.3	-	22	4499	c.4246G>A	c.(4246-4248)Gtg>Atg	p.V1416M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1438M|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1416	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCTCCTCCACGCCGGCCCGC	0.692																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4312-4314)Gtg>Atg		Homo sapiens envoplakin (EVPL), mRNA.		C	MET/VAL	0,4406		0,0,2203	39.0	43.0	42.0		4246	4.1	0.8	17	dbSNP_134	42	1,8595	1.2+/-3.3	0,1,4297	no	missense	EVPL	NM_001988.2	21	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1416/2034	74005040	1,13001	2203	4298	6501	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005040C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4246G>A	17.37:g.74005040C>T	ENSP00000301607:p.Val1416Met					EVPL_uc002jqi.2_Missense_Mutation_p.V1416M|EVPL_uc010wst.1_Missense_Mutation_p.V886M	p.V1438M	NM_001988	NP_001979	Q92817	EVPL_HUMAN			21	4540	-			1416			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4312G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059058	0.36373	0.0	1.16E-4	ENSG00000167880	ENST00000301607	T	0.54071	0.59	5.1	4.11	0.48088	.	0.150365	0.44688	D	0.000425	T	0.60945	0.2308	M	0.65975	2.015	0.35366	D	0.788611	D;D	0.67145	0.996;0.995	P;P	0.51193	0.65;0.662	T	0.74444	-0.3663	10	0.56958	D	0.05	-29.2332	15.0137	0.71567	0.1436:0.8564:0.0:0.0	.	1438;1416	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1416	ENSP00000301607:V1416M	ENSP00000301607:V1416M	V	-	1	0	EVPL	71516635	0.781000	0.28676	0.798000	0.32154	0.326000	0.28443	1.519000	0.35888	1.242000	0.43836	0.655000	0.94253	GTG		0.692	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		6	166	0	0	0	1	0	6	166				
COLEC11	78989	broad.mit.edu	37	2	3691640	3691640	+	Missense_Mutation	SNP	G	G	A	rs372572907		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr2:3691640G>A	ENST00000349077.4	+	7	851	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	COLEC11_ENST00000403096.3_Missense_Mutation_p.G224S|COLEC11_ENST00000418971.2_Missense_Mutation_p.G264S|COLEC11_ENST00000382062.2_Missense_Mutation_p.G226S|COLEC11_ENST00000402922.1_Missense_Mutation_p.G200S|COLEC11_ENST00000402794.1_Missense_Mutation_p.G200S|COLEC11_ENST00000236693.7_Missense_Mutation_p.G247S|COLEC11_ENST00000404205.1_Missense_Mutation_p.G176S|COLEC11_ENST00000487365.1_3'UTR	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	250	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GGCCTCGGGCGGCTGGAACGA	0.622																																						uc002qya.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(748-750)Ggc>Agc		Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.		G	SER/GLY,SER/GLY	0,4406		0,0,2203	57.0	60.0	59.0		748,739	5.1	1.0	2		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COLEC11	NM_024027.3,NM_199235.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	250/272,247/269	3691640	1,13005	2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691640G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.748G>A	2.37:g.3691640G>A	ENSP00000339168:p.Gly250Ser					COLEC11_uc002qxz.3_Missense_Mutation_p.G247S|COLEC11_uc002qyb.3_Missense_Mutation_p.G226S|COLEC11_uc002qyc.3_Missense_Mutation_p.G226S|COLEC11_uc010ewo.3_Missense_Mutation_p.G202S|COLEC11_uc010ewp.3_Missense_Mutation_p.G224S|COLEC11_uc010ewq.3_Missense_Mutation_p.G200S|COLEC11_uc010ewr.3_Missense_Mutation_p.G200S|COLEC11_uc010ews.3_Missense_Mutation_p.G176S	p.G250S	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	896	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		250			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.748G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844069	0.91197	0.0	1.16E-4	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.09	5.09	0.68999	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.147080	0.64402	D	0.000009	T	0.43500	0.1250	L	0.33710	1.025	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;0.998;0.998;0.999;0.996;0.994	D;P;P;D;P;P;D;P;P	0.97110	1.0;0.858;0.858;0.997;0.858;0.815;0.932;0.823;0.666	T	0.12941	-1.0528	10	0.15499	T	0.54	-26.5964	17.4748	0.87657	0.0:0.0:1.0:0.0	.	176;200;200;224;202;226;226;250;247	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	S	226;247;250;264;224;200;176;200	ENSP00000371494:G226S;ENSP00000236693:G247S;ENSP00000339168:G250S;ENSP00000411770:G264S;ENSP00000385130:G224S;ENSP00000384882:G200S;ENSP00000385827:G176S;ENSP00000385653:G200S	ENSP00000236693:G247S	G	+	1	0	COLEC11	3669515	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	9.751000	0.98889	2.356000	0.79943	0.467000	0.42956	GGC		0.622	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		5	111	0	0	0	1	0	5	111				
IL17RA	23765	broad.mit.edu	37	22	17583105	17583105	+	Silent	SNP	C	C	T	rs371674761		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:17583105C>T	ENST00000319363.6	+	7	808	c.675C>T	c.(673-675)aaC>aaT	p.N225N		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	225					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCTGTGGAACGAATCTACCC	0.572																																						uc002zly.3																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(673-675)aaC>aaT		Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	183.0	160.0	168.0		675	-2.0	0.8	22		168	0,8600		0,0,4300	no	coding-synonymous	IL17RA	NM_014339.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		225/867	17583105	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17583105C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.675C>T	22.37:g.17583105C>T							p.N225N	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	6	806	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	225					O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.675C>T	CCDS13739.1																																																																																				0.572	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		7	159	0	0	0	1	0	7	159				
DAGLA	747	broad.mit.edu	37	11	61511242	61511242	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr11:61511242C>T	ENST00000257215.5	+	20	2526	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	804					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCGCAGCATCCGGGGCTCCCC	0.662																																						uc001nsa.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2410-2412)Cgg>Tgg		Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.							63.0	72.0	69.0					11																	61511242		1987	4008	5995	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511242C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2410C>T	11.37:g.61511242C>T	ENSP00000257215:p.Arg804Trp						p.R804W	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	19	2526	+			804					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2410C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091277	0.55968	.	.	ENSG00000134780	ENST00000257215	T	0.35789	1.29	3.11	2.15	0.27550	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.40346	-0.9568	10	0.87932	D	0	-23.3504	11.8068	0.52161	0.184:0.816:0.0:0.0	.	804	Q9Y4D2	DGLA_HUMAN	W	804	ENSP00000257215:R804W	ENSP00000257215:R804W	R	+	1	2	DAGLA	61267818	1.000000	0.71417	0.978000	0.43139	0.665000	0.39181	2.712000	0.47186	0.829000	0.34733	0.491000	0.48974	CGG		0.662	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		14	286	0	0	0	1	0	14	286				
MEGF6	1953	broad.mit.edu	37	1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:3427403T>C	ENST00000356575.4	-	10	1404	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	393	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687																																					Ovarian(73;978 3658)	uc001akl.3																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1177-1179)tAc>tGc		Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.							44.0	55.0	51.0					1																	3427403		2154	4245	6399	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427403T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1178A>G	1.37:g.3427403T>C	ENSP00000348982:p.Tyr393Cys					MEGF6_uc001akk.3_Missense_Mutation_p.Y288C	p.Y393C	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	9	1405	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	393			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1178A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920882	0.73213	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88664	-2.41;-2.41	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	H	0.96547	3.84	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96812	0.9597	10	0.59425	D	0.04	-45.6001	13.478	0.61320	0.0:0.0:0.0:1.0	.	393;288	O75095;O75095-2	MEGF6_HUMAN;.	C	288;393	ENSP00000294599:Y288C;ENSP00000348982:Y393C	ENSP00000294599:Y288C	Y	-	2	0	MEGF6	3417263	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.080000	0.57620	1.655000	0.50712	0.379000	0.24179	TAC		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	100	0	0	0	1	0	4	100				
TMCO4	255104	broad.mit.edu	37	1	20009578	20009578	+	Silent	SNP	G	G	A			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:20009578G>A	ENST00000294543.6	-	16	2101	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Silent_p.P580P|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	620						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGGCACAATCGGGGCAGCCCA	0.652																																						uc001bcn.3																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1858-1860)ccC>ccT		Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.							48.0	59.0	55.0					1																	20009578		2202	4299	6501	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20009578G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1860C>T	1.37:g.20009578G>A						TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	p.P620P	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	15	2102	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	620					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.1860C>T	CCDS198.1																																																																																				0.652	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		52	167	0	0	0	1	0	52	167				
C9orf50	375759	broad.mit.edu	37	9	132375757	132375757	+	Missense_Mutation	SNP	C	C	T	rs368047969		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr9:132375757C>T	ENST00000372478.4	-	5	1201	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	334										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AGGGTCTCCTCCTTGGCCCCA	0.662																																						uc004byc.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1000-1002)Gag>Aag		Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.		C	LYS/GLU	0,4406		0,0,2203	49.0	48.0	48.0		1000	1.4	0.0	9		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf50	NM_199350.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	334/432	132375757	1,13005	2203	4300	6503	SO:0001583	missense	375759							g.chr9:132375757C>T	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1000G>A	9.37:g.132375757C>T	ENSP00000361556:p.Glu334Lys					C9orf50_uc022boo.1_Missense_Mutation_p.E333K	p.E334K	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN			4	1202	-		Ovarian(14;0.00556)	334					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.1000G>A	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889865	0.72524	0.0	1.16E-4	ENSG00000179058	ENST00000372478	T	0.22336	1.96	3.27	1.39	0.22231	.	1.192960	0.06388	N	0.716614	T	0.12987	0.0315	N	0.24115	0.695	0.09310	N	1	P	0.37101	0.582	B	0.32583	0.148	T	0.26467	-1.0102	10	0.62326	D	0.03	-6.7488	4.521	0.11959	0.0:0.5837:0.2771:0.1391	.	334	Q5SZB4	CI050_HUMAN	K	334	ENSP00000361556:E334K	ENSP00000361556:E334K	E	-	1	0	C9orf50	131415578	0.041000	0.20044	0.013000	0.15412	0.512000	0.34134	1.033000	0.30191	0.401000	0.25424	0.456000	0.33151	GAG		0.662	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		8	100	0	0	0	1	0	8	100				
TRIM56	81844	broad.mit.edu	37	7	100732226	100732226	+	Missense_Mutation	SNP	C	C	T	rs111572673		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:100732226C>T	ENST00000306085.6	+	3	1930	c.1633C>T	c.(1633-1635)Ccg>Tcg	p.P545S		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	545					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCACCGTGCCGGTCCCTGA	0.672																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1633-1635)Ccg>Tcg		Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.		C	SER/PRO	0,4248		0,0,2124	47.0	54.0	52.0		1633	3.8	1.0	7	dbSNP_132	52	1,8455		0,1,4227	yes	missense	TRIM56	NM_030961.1	74	0,1,6351	TT,TC,CC		0.0118,0.0,0.0079	benign	545/756	100732226	1,12703	2124	4228	6352	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732226C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1633C>T	7.37:g.100732226C>T	ENSP00000305161:p.Pro545Ser					TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.P545S	p.P545S	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			2	1864	+	Lung NSC(181;0.136)|all_lung(186;0.182)		545					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1633C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387372	0.25031	0.0	1.18E-4	ENSG00000169871	ENST00000306085	T	0.28454	1.61	3.76	3.76	0.43208	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.18882	0.0453	N	0.14661	0.345	0.25144	N	0.990472	B	0.24186	0.099	B	0.19391	0.025	T	0.07966	-1.0745	9	0.36615	T	0.2	.	11.3763	0.49730	0.0:1.0:0.0:0.0	.	545	Q9BRZ2	TRI56_HUMAN	S	545	ENSP00000305161:P545S	ENSP00000305161:P545S	P	+	1	0	TRIM56	100518946	0.992000	0.36948	0.972000	0.41901	0.779000	0.44077	1.762000	0.38451	2.380000	0.81148	0.591000	0.81541	CCG		0.672	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		6	174	0	0	0	1	0	6	174				
EEF1D	1936	broad.mit.edu	37	8	144671277	144671277	+	Intron	SNP	G	G	A	rs373708948		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr8:144671277G>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Silent_p.A325A|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532741.1_Silent_p.A375A|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Silent_p.A325A			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGCGGCACTCGGCGCTGTCGT	0.692																																						uc003yyq.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1123-1125)gcC>gcT		Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.		G	,,,,,,	0,4392		0,0,2196	19.0	20.0	20.0		975,,,,,,975	-9.8	0.3	8		20	1,8589		0,1,4294	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	EEF1D	NM_001130053.2,NM_001130055.2,NM_001130056.2,NM_001130057.2,NM_001195203.1,NM_001960.4,NM_032378.4	,,,,,,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	325/648,,,,,,325/648	144671277	1,12981	2196	4295	6491	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671277G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2258C>T	8.37:g.144671277G>A						EEF1D_uc003yyp.2_Silent_p.A325A|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.A325A|EEF1D_uc003yyr.3_Silent_p.A325A|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	p.A375A	NM_032378	NP_115754	P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		0	1354	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.1125C>T	CCDS6405.1																																																																																				0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		3	28	0	0	0	1	0	3	28				
BBX	56987	broad.mit.edu	37	3	107492013	107492013	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:107492013A>G	ENST00000325805.8	+	11	1732	c.1445A>G	c.(1444-1446)gAc>gGc	p.D482G	BBX_ENST00000406780.1_Missense_Mutation_p.D482G|BBX_ENST00000415149.2_Missense_Mutation_p.D482G|BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.D482G			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	482	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TCGGAATCTGACATTGAGAGC	0.433																																						uc010hpr.3																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1444-1446)gAc>gGc		Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.							72.0	76.0	75.0					3																	107492013		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492013A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1445A>G	3.37:g.107492013A>G	ENSP00000319974:p.Asp482Gly					BBX_uc003dwk.4_Missense_Mutation_p.D482G|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.D503G|BBX_uc003dwm.4_Missense_Mutation_p.D482G|BBX_uc003dwo.4_5'Flank	p.D482G	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		10	1772	+			482			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1445A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947829	0.73787	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	6.07	6.07	0.98685	.	0.092296	0.85682	D	0.000000	T	0.67739	0.2925	L	0.34521	1.04	0.47862	D	0.999535	D;D;D	0.76494	0.999;0.999;0.988	D;D;P	0.72982	0.979;0.979;0.852	T	0.70722	-0.4794	10	0.87932	D	0	-13.6968	16.635	0.85050	1.0:0.0:0.0:0.0	.	482;482;482	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	G	482	ENSP00000408358:D482G;ENSP00000385317:D482G;ENSP00000319974:D482G;ENSP00000385530:D482G	ENSP00000319974:D482G	D	+	2	0	BBX	108974703	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.618000	0.67722	2.330000	0.79161	0.477000	0.44152	GAC		0.433	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		6	234	0	0	0	1	0	6	234				
OBSCN	84033	broad.mit.edu	37	1	228437749	228437749	+	Missense_Mutation	SNP	G	G	A	rs201854668		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:228437749G>A	ENST00000422127.1	+	14	4161	c.4117G>A	c.(4117-4119)Gag>Aag	p.E1373K	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.E1465K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1373K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1373	Ig-like 14.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGAGCTGCGAGGTGGCCCA	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14774	0.0		0.0	False		,,,				2504	0.0					uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4117-4119)Gag>Aag		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.		G	LYS/GLU,LYS/GLU	1,4113		0,1,2056	64.0	67.0	66.0		4117,4117	4.3	0.9	1		66	16,8346		1,14,4166	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	56,56	1,15,6222	AA,AG,GG		0.1913,0.0243,0.1363	probably-damaging,probably-damaging	1373/7969,1373/6621	228437749	17,12459	2057	4181	6238	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228437749G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4117G>A	1.37:g.228437749G>A	ENSP00000409493:p.Glu1373Lys					OBSCN_uc001hsn.3_Missense_Mutation_p.E1373K	p.E1373K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			13	4161	+		Prostate(94;0.0405)	1373			Ig-like 14.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4117G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678065	0.47886	2.43E-4	0.001913	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66280	-0.2;-0.2	5.31	4.34	0.51931	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.66939	2.045	0.80722	D	1	P;D	0.89917	0.776;1.0	B;D	0.91635	0.274;0.999	T	0.72443	-0.4292	10	0.26408	T	0.33	.	15.4	0.74830	0.0:0.1395:0.8605:0.0	.	1373;1373	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1373	ENSP00000284548:E1373K;ENSP00000409493:E1373K	ENSP00000284548:E1373K	E	+	1	0	OBSCN	226504372	1.000000	0.71417	0.949000	0.38748	0.012000	0.07955	4.378000	0.59568	2.468000	0.83385	0.655000	0.94253	GAG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	193	0	0	0	1	0	6	193				
SOGA3	387104	broad.mit.edu	37	6	127837687	127837687	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr6:127837687C>T	ENST00000525778.1	-	2	818	c.73G>A	c.(73-75)Gct>Act	p.A25T	SOGA3_ENST00000481848.2_Missense_Mutation_p.A25T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A25T|SOGA3_ENST00000556132.1_Missense_Mutation_p.A25T|SOGA3_ENST00000465909.2_Missense_Mutation_p.A25T			Q5TF21	SOGA3_HUMAN	SOGA family member 3	25					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGCAGACGAGCCTCAGTGGCT	0.647																																						uc003qbd.3																			0											c.(73-75)Gct>Act		Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.							13.0	16.0	15.0					6																	127837687		2048	4185	6233	SO:0001583	missense	387104					integral to membrane		g.chr6:127837687C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.73G>A	6.37:g.127837687C>T	ENSP00000434570:p.Ala25Thr						p.A25T	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN			1	938	-			25						Missense_Mutation	SNP	ENST00000525778.1	37	c.73G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064870	0.36470	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.79	4.88	0.63580	.	0.181905	0.37715	N	0.001966	T	0.15132	0.0365	N	0.14661	0.345	0.36775	D	0.883995	B	0.31318	0.319	B	0.34138	0.176	T	0.06935	-1.0799	10	0.35671	T	0.21	-6.048	17.5015	0.87733	0.0:0.8653:0.1347:0.0	.	25	Q5TF21	CF174_HUMAN	T	25	ENSP00000451768:A25T;ENSP00000357251:A25T;ENSP00000434570:A25T;ENSP00000435559:A25T	ENSP00000435559:A25T	A	-	1	0	C6orf174	127879380	1.000000	0.71417	0.997000	0.53966	0.226000	0.24999	0.799000	0.27028	2.735000	0.93741	0.561000	0.74099	GCT		0.647	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		4	27	0	0	0	1	0	4	27				
LAMB4	22798	broad.mit.edu	37	7	107752270	107752270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:107752270C>T	ENST00000388781.3	-	4	397	c.314G>A	c.(313-315)tGg>tAg	p.W105*	LAMB4_ENST00000414450.2_Nonsense_Mutation_p.W105*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.W105*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.W105*|LAMB4_ENST00000418464.1_Nonsense_Mutation_p.W105*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	105	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCAGATTGCCACCATTTCTT	0.348																																						uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(313-315)tGg>tAg		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							174.0	165.0	168.0					7																	107752270		2203	4300	6503	SO:0001587	stop_gained	22798				cell adhesion	basement membrane		g.chr7:107752270C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.314G>A	7.37:g.107752270C>T	ENSP00000373433:p.Trp105*					LAMB4_uc003vey.2_Nonsense_Mutation_p.W105*	p.W105*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			3	398	-			105			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Nonsense_Mutation	SNP	ENST00000388781.3	37	c.314G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457108	0.96223	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	.	.	.	5.35	5.35	0.76521	.	0.127189	0.36778	N	0.002401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000205386:W105X	W	-	2	0	LAMB4	107539506	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	4.617000	0.61204	2.941000	0.99782	0.655000	0.94253	TGG		0.348	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		12	219	0	0	0	1	0	12	219				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		51	174	0	0	0	1	0	51	174				
ZNF212	7988	broad.mit.edu	37	7	148947484	148947484	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:148947484G>A	ENST00000335870.2	+	2	387	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CGTGGAGTTCGGGAACCAGCT	0.652																																						uc003wfp.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(259-261)Ggg>Agg		Homo sapiens zinc finger protein 212 (ZNF212), mRNA.							72.0	76.0	75.0					7																	148947484		2203	4300	6503	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947484G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.259G>A	7.37:g.148947484G>A	ENSP00000338572:p.Gly87Arg						p.G87R	NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		1	387	+	Melanoma(164;0.15)		87					B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.259G>A	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252700	0.59212	.	.	ENSG00000170260	ENST00000335870	T	0.23147	1.92	5.95	3.12	0.35913	.	0.374680	0.23360	N	0.049035	T	0.42245	0.1194	M	0.65498	2.005	0.27563	N	0.950113	D	0.89917	1.0	D	0.76071	0.987	T	0.25641	-1.0126	10	0.56958	D	0.05	-14.6209	5.0676	0.14591	0.1746:0.0:0.6592:0.1662	.	87	Q9UDV6	ZN212_HUMAN	R	87	ENSP00000338572:G87R	ENSP00000338572:G87R	G	+	1	0	ZNF212	148578417	0.996000	0.38824	0.234000	0.24042	0.697000	0.40408	2.511000	0.45476	0.387000	0.25024	0.563000	0.77884	GGG		0.652	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		8	236	0	0	0	1	0	8	236				
PANX2	56666	broad.mit.edu	37	22	50617591	50617591	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:50617591G>A	ENST00000395842.2	+	3	1919	c.1919G>A	c.(1918-1920)gGg>gAg	p.G640E	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	640					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGGAGGACGGGGGCCCCCGC	0.682																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1918-1920)gGg>gAg		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							32.0	30.0	31.0					22																	50617591		2200	4297	6497	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617591G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1919G>A	22.37:g.50617591G>A	ENSP00000379183:p.Gly640Glu					PANX2_uc003bjp.4_Intron|PANX2_uc003bjo.4_Intron	p.G640E	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	1919	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	640					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1919G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532532	0.27387	.	.	ENSG00000073150	ENST00000395842;ENST00000401643	T	0.21361	2.01	3.72	2.69	0.31865	.	0.779066	0.10383	U	0.681308	T	0.09686	0.0238	N	0.12182	0.205	0.25809	N	0.984413	B	0.06786	0.001	B	0.06405	0.002	T	0.27571	-1.0070	9	.	.	.	-8.7779	3.6114	0.08062	0.3925:0.0:0.6075:0.0	.	640	Q96RD6	PANX2_HUMAN	E	640;317	ENSP00000379183:G640E	.	G	+	2	0	PANX2	48959718	1.000000	0.71417	0.803000	0.32268	0.307000	0.27823	1.673000	0.37534	2.081000	0.62600	0.313000	0.20887	GGG		0.682	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		3	35	0	0	0	1	0	3	35				
MYBBP1A	10514	broad.mit.edu	37	17	4453510	4453510	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr17:4453510T>G	ENST00000254718.4	-	9	1468	c.1162A>C	c.(1162-1164)Acg>Ccg	p.T388P	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.T388P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	388	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AAAGTAGGCGTGACAGGGAGG	0.642																																						uc002fxz.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1162-1164)Acg>Ccg		Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.							100.0	107.0	105.0					17																	4453510		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4453510T>G	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1162A>C	17.37:g.4453510T>G	ENSP00000254718:p.Thr388Pro					MYBBP1A_uc002fyb.4_Missense_Mutation_p.T388P	p.T388P	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN			8	1224	-			388			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1162A>C	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	T	8.693	0.907787	0.17833	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.43294	0.95;0.95	5.06	-5.32	0.02722	Armadillo-type fold (1);	0.924771	0.09232	N	0.830468	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	1	B;B	0.23540	0.087;0.071	B;B	0.31495	0.131;0.081	T	0.29058	-1.0024	10	0.44086	T	0.13	-3.9144	2.7199	0.05198	0.1221:0.2221:0.131:0.5248	.	388;388	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	P	388	ENSP00000370968:T388P;ENSP00000254718:T388P	ENSP00000254718:T388P	T	-	1	0	MYBBP1A	4400259	0.130000	0.22417	0.004000	0.12327	0.002000	0.02628	-0.281000	0.08456	-1.257000	0.02475	-0.132000	0.14878	ACG		0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		10	271	0	0	0	1	0	10	271				
